Canonical Allele Identifier: CA458162103

Gene: BPGM

Linked Data

• dbSNP Id: rs1322024505
• gnomAD v2: 7-134346535-T-C
• gnomAD v4: 7-134661783-T-C
• MyVariant Identifiers: chr7:g.134346535T>C (hg19) ; chr7:g.134661783T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.134661783T>C , CM000669.2:g.134661783T>C	GRCh38
NC_000007.13:g.134346535T>C , CM000669.1:g.134346535T>C	GRCh37
NC_000007.12:g.133997075T>C	NCBI36
NG_012921.1:g.20005T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344924.8:c.276T>C MANE Select	ENSP00000342032.3:p.Tyr92=
ENST00000344924.7:c.276T>C	ENSP00000342032.3:p.Tyr92=
ENST00000393132.2:c.276T>C	ENSP00000376840.2:p.Tyr92=
ENST00000418040.5:c.276T>C	ENSP00000399838.1:p.Tyr92=
NM_001293085.1:c.276T>C	NP_001280014.1:p.Tyr92=
NM_001724.4:c.276T>C	NP_001715.1:p.Tyr92=
NM_199186.2:c.276T>C	NP_954655.1:p.Tyr92=
XM_011516527.1:c.276T>C	XP_011514829.1:p.Tyr92=
XR_928017.1:n.6821-648A>G
XM_011516527.2:c.276T>C	XP_011514829.1:p.Tyr92=
NM_001724.5:c.276T>C MANE Select	NP_001715.1:p.Tyr92=
NM_001293085.2:c.276T>C	NP_001280014.1:p.Tyr92=
NM_199186.3:c.276T>C	NP_954655.1:p.Tyr92=